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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 5
2007 1
2008 1
2010 1
2011 1
2012 2
2013 3
2014 3
2015 1
2016 3
2017 3
2018 4
2020 5
2021 3
2022 4
2023 7
2024 5

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49 results

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Page 1
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: krawczynski mr. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Walczak-Sztulpa J, Wawrocka A, Kuszel Ł, Pietras P, Leśniczak-Staszak M, Andrusiewicz M, Krawczyński MR, Latos-Bieleńska A, Pawlak M, Grenda R, Materna-Kiryluk A, Oud MM, Szaflarski W. Walczak-Sztulpa J, et al. Among authors: krawczynski mr. Front Mol Biosci. 2023 Dec 12;10:1285790. doi: 10.3389/fmolb.2023.1285790. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161384 Free PMC article.
The genetics of aniridia - simple things become complicated.
Wawrocka A, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. J Appl Genet. 2018 May;59(2):151-159. doi: 10.1007/s13353-017-0426-1. Epub 2018 Feb 19. J Appl Genet. 2018. PMID: 29460221 Free PMC article. Review.
Standard therapy or additionally radioactive iodine (131I) therapy; which will stop the recurrence of glioblastoma multiforme (GBM)?
Czarnywojtek A, Gut P, Dyrka K, Sowiński J, Sawicka-Gutaj N, Katulska K, Stajgis P, Wykrętowicz M, Moskal J, Kościński J, Pietrończyk K, Graczyk P, Krawczyński MR, Florek E, Szczepanek-Parulska E, Ruchała M, Ferlito A. Czarnywojtek A, et al. Endokrynol Pol. 2024;75(2):130-139. doi: 10.5603/ep.98240. Epub 2024 Apr 22. Endokrynol Pol. 2024. PMID: 38646982 Free article. Review.
Achromatopsia mutations target sequential steps of ATF6 activation.
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Among authors: krawczynski mr. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.
Co-occurrence of Jalili syndrome and muscular overgrowth.
Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR. Wawrocka A, et al. Among authors: krawczynski mr. Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6. Am J Med Genet A. 2017. PMID: 28586144
Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K, Wawrocka A, Krawczynski MR. Kuchalska K, et al. Among authors: krawczynski mr. Congenit Anom (Kyoto). 2023 Jul;63(4):109-115. doi: 10.1111/cga.12520. Epub 2023 May 16. Congenit Anom (Kyoto). 2023. PMID: 37191119
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: krawczynski mr. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
49 results